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Items: 1 to 20 of 111

1.

Preserved neurobehavioral abilities in Lujan-Fryns syndrome.

Donders J, Toriello H, van Doornik S.

Am J Med Genet. 2002 Jan 22;107(3):243-6.

PMID:
11807907
2.

Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome.

Alonso P, Pintos G, Almazan F, Hernández L, Loran E, Menchon JM, Vallejo J.

Clin Dysmorphol. 2006 Jul;15(3):181-4.

PMID:
16760741
3.

Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.

Lerma-Carrillo I, Molina JD, Cuevas-Duran T, Julve-Correcher C, Espejo-Saavedra JM, Andrade-Rosa C, Lopez-Muñoz F.

Am J Med Genet A. 2006 Dec 15;140(24):2807-11. Review.

PMID:
17036352
4.

Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.

Lacombe D, Bonneau D, Verloes A, Couet D, Koulischer L, Battin J.

Genet Couns. 1993;4(3):193-8.

PMID:
8267926
5.

X-linked mental retardation with marfanoid habitus: first report of four Italian patients.

Lalatta F, Livini E, Selicorni A, Briscioli V, Vita A, Lugo F, Zollino M, Gurrieri F, Neri G.

Am J Med Genet. 1991 Feb-Mar;38(2-3):228-32.

PMID:
2018063
6.

Lujan-Fryns syndrome in the differential diagnosis of schizophrenia.

De Hert M, Steemans D, Theys P, Fryns JP, Peuskens J.

Am J Med Genet. 1996 Apr 9;67(2):212-4.

PMID:
8723050
7.

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N.

Am J Med Genet A. 2016 Jan;170A(1):94-102. doi: 10.1002/ajmg.a.37378. Epub 2015 Sep 11.

PMID:
26358559
8.

Aortic root dilation in apparent Lujan-Fryns syndrome.

Wittine LM, Josephson KD, Williams MS.

Am J Med Genet. 1999 Oct 29;86(5):405-9.

PMID:
10508979
9.

Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome.

Dieckmann PM, Lucena LC, Dutra LA, Pedroso JL, Barsottini OG.

Arq Neuropsiquiatr. 2013 Jan;71(1):68-9. No abstract available.

10.

Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S.

Am J Med Genet A. 2005 Jun 15;135(3):251-62.

PMID:
15884042
11.

Marfanoid habitus, dysmorphic features, and web neck.

Lee YC, Wilson CJ, Winship IM, Veale AG.

South Med J. 2000 Dec;93(12):1197-200.

PMID:
11142456
12.

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).

Van Buggenhout G, Fryns JP.

Orphanet J Rare Dis. 2006 Jul 10;1:26. Review.

13.

Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome.

Stathopulu E, Ogilvie CM, Flinter FA.

Am J Med Genet A. 2003 Jun 15;119A(3):363-6.

PMID:
12784307
14.

X-linked mental retardation with marfanoid habitus.

Fryns JP, Buttiens M.

Am J Med Genet. 1987 Oct;28(2):267-74. Review.

PMID:
3322000
15.

Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.

Leube B, Majewski F, Gebauer J, Royer-Pokora B.

Am J Med Genet A. 2003 Dec 15;123A(3):296-300.

PMID:
14608653
16.

Unilateral radio-ulnar synostosis associated with hypotonia, developmental delay, and facial dysmorphism.

Divizia MT, Baban A, Pessagno A, Boero S, Ravazzolo R, Silengo MC, Lerone M.

Am J Med Genet A. 2005 Aug 15;137(1):106-8. Review. No abstract available.

PMID:
16015584
17.

Marinesco-Sjögren syndrome in a male with mild dysmorphism.

Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E.

Am J Med Genet A. 2005 Mar 1;133A(2):197-201. Review.

PMID:
15633176
18.

Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.

Alkuraya FS, Lin AE, Irons MB, Kimonis VE.

Am J Med Genet A. 2005 Jan 15;132A(2):226-30. Review.

PMID:
15580636
19.

A familial dysmorphic condition with hypotonia, seizures and precocious puberty.

Smith A, Leask K, Tomlin P, Donnai D.

Clin Dysmorphol. 2008 Jul;17(3):161-4. doi: 10.1097/MCD.0b013e328302f0c4.

PMID:
18541960
20.

Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression.

Dotti MT, Malandrini A, Bartolini S, Fabrizi GM, Federico A.

Brain Dev. 1993 Jul-Aug;15(4):291-4.

PMID:
8250152

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